Incidental Mutation 'R4526:Arl13b'
| ID |
334459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arl13b
|
| Ensembl Gene |
ENSMUSG00000022911 |
| Gene Name |
ADP-ribosylation factor-like 13B |
| Synonyms |
C530009C10Rik, hnn, A530097K21Rik, A930014M17Rik, Arl2l1 |
| MMRRC Submission |
041591-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
62614048-62667403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62632374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055557]
[ENSMUST00000089289]
[ENSMUST00000232561]
|
| AlphaFold |
Q640N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055557
|
| SMART Domains |
Protein: ENSMUSP00000055901
Gene: ENSMUSG00000047854
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SynN
|
51 |
161 |
4e-18 |
BLAST |
|
t_SNARE
|
202 |
269 |
3.21e-9 |
SMART |
|
low complexity region
|
277 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089289
AA Change: D176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
AA Change: D176G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
8 |
190 |
8.2e-43 |
PFAM |
|
Pfam:SRPRB
|
19 |
157 |
7.1e-8 |
PFAM |
|
Pfam:Roc
|
23 |
134 |
5.4e-9 |
PFAM |
|
Pfam:Ras
|
23 |
183 |
3.1e-10 |
PFAM |
|
low complexity region
|
207 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102469
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232561
AA Change: D73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,535 (GRCm39) |
R178C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
C |
A |
17: 56,092,016 (GRCm39) |
S92* |
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Crebzf |
A |
C |
7: 90,092,968 (GRCm39) |
E16A |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,022,778 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,007,955 (GRCm39) |
D2151Y |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,888,216 (GRCm39) |
K544E |
probably damaging |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Lcn9 |
A |
C |
2: 25,714,520 (GRCm39) |
K128T |
possibly damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,844 (GRCm39) |
E164G |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,544,373 (GRCm39) |
|
probably null |
Het |
| Ly75 |
G |
A |
2: 60,161,117 (GRCm39) |
T900M |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,104 (GRCm39) |
I74F |
possibly damaging |
Het |
| Myh10 |
C |
T |
11: 68,705,875 (GRCm39) |
T2007I |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,978 (GRCm39) |
S937P |
probably damaging |
Het |
| Oas1b |
T |
A |
5: 120,960,167 (GRCm39) |
|
probably null |
Het |
| Or4x6 |
T |
C |
2: 89,949,016 (GRCm39) |
K309E |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,753 (GRCm39) |
T275A |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,339 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,722,841 (GRCm39) |
P297S |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,286,130 (GRCm39) |
S102P |
probably damaging |
Het |
| Plvap |
G |
A |
8: 71,960,415 (GRCm39) |
R334W |
probably damaging |
Het |
| Polr2b |
T |
G |
5: 77,474,561 (GRCm39) |
V466G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,335 (GRCm39) |
I246T |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,301,113 (GRCm39) |
K281N |
probably damaging |
Het |
| Scamp4 |
T |
C |
10: 80,446,891 (GRCm39) |
F108S |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,736,595 (GRCm39) |
L490M |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,359,383 (GRCm39) |
V79A |
possibly damaging |
Het |
| Stard7 |
A |
G |
2: 127,139,128 (GRCm39) |
S347G |
probably benign |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,145 (GRCm39) |
V860A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,667 (GRCm39) |
T677A |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,284 (GRCm39) |
H1762Q |
probably benign |
Het |
| Zmynd8 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 165,649,527 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,935,328 (GRCm39) |
Y59H |
probably benign |
Het |
|
| Other mutations in Arl13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01659:Arl13b
|
APN |
16 |
62,623,113 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02994:Arl13b
|
APN |
16 |
62,632,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Arl13b
|
UTSW |
16 |
62,622,096 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1484:Arl13b
|
UTSW |
16 |
62,626,999 (GRCm39) |
missense |
probably benign |
|
|
R1618:Arl13b
|
UTSW |
16 |
62,633,640 (GRCm39) |
splice site |
probably null |
|
|
R1637:Arl13b
|
UTSW |
16 |
62,651,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Arl13b
|
UTSW |
16 |
62,627,007 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4927:Arl13b
|
UTSW |
16 |
62,622,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Arl13b
|
UTSW |
16 |
62,622,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Arl13b
|
UTSW |
16 |
62,647,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Arl13b
|
UTSW |
16 |
62,626,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Arl13b
|
UTSW |
16 |
62,647,774 (GRCm39) |
missense |
probably benign |
|
|
R9405:Arl13b
|
UTSW |
16 |
62,632,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAACAGGTTAAAGCTGC -3'
(R):5'- CAGGCAGTTCAGTTTGTCTTC -3'
Sequencing Primer
(F):5'- GGTTAAAGCTGCCCTTTTTAATATTC -3'
(R):5'- GGCTAAATTTTGCTTTTCCAA -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation